The authors thank the patient and his parents for participating in this study. We thank all of our colleagues in the Department of Pediatrics at Nihon University Itabashi Hospital who have been involved in the patient’s care and research. We also thank Dr. Kay Tanita and Ms. Maki Yamazaki at TMDU, Dr. Junichi Hosokawa and Dr. Osamu Ohara at Kazusa DNA Research Institute, Dr. Yuki Sakai, Dr. Yu Hashimoto and Ms. Yukiko Konakai at NDMC for tremendous technical assistance. We also deeply thank Dr. Yoji Uejima for the clinical in-formation of the maternal uncle of the patient.